المؤلفون: Schmetz, Ariane^{Aff1, IDs00439023026225_cor1}, Lüdecke, Hermann-Josef, Surowy, Harald, Sivalingam, Sugirtahn, Bruel, Ange-Line^{Aff2, Aff3}, Caumes, Roseline, Charles, Perrine, Chatron, Nicolas^{Aff6, Aff7}, Chrzanowska, Krystyna, Codina-Solà, Marta, Colson, Cindy, Cuscó, Ivon, Denommé-Pichon, Anne-Sophie^{Aff2, Aff3}, Edery, Patrick^{Aff6, Aff10}, Faivre, Laurence^{Aff2, Aff11}, Green, Andrew, Heide, Solveig, Hsieh, Tzung-Chien, Hustinx, Alexander, Kleinendorst, Lotte, Knopp, Cordula, Kraft, Florian, Krawitz, Peter M., Lasa-Aranzasti, Amaia, Lesca, Gaetan^{Aff6, Aff7}, López-González, Vanesa, Maraval, Julien^{Aff2, Aff17}, Mignot, Cyril, Neuhann, Teresa, Netzer, Christian^{Aff19, Aff20}, Oehl-Jaschkowitz, Barbara, Petit, Florence, Philippe, Christophe^{Aff2, Aff3, Aff22}, Posmyk, Renata, Putoux, Audrey^{Aff6, Aff10}, Reis, André^{Aff24, Aff25}, Sánchez-Soler, María José, Suh, Julia^{Aff15, Aff26}, Tkemaladze, Tinatin, Tran Mau Them, Frédéric^{Aff2, Aff3}, Travessa, André, Trujillano, Laura, Valenzuela, Irene, van Haelst, Mieke M., Vasileiou, Georgia^{Aff24, Aff25}, Vincent-Delorme, Catherine, Walther, Mona, Verde, Pablo, Bramswig, Nuria C., Wieczorek, Dagmar^{Aff1, Aff30}

المصدر: Human Genetics. 143(1):71-84

المؤلفون: Hanker, Britta^{Aff1, IDs41431021008652_cor1}, Gillessen-Kaesbach, Gabriele^{Aff2, Aff3}, Hüning, Irina^{Aff1, Aff2}, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

المصدر: European Journal of Human Genetics. 30(1):126-132

المؤلفون: Averdunk, Luisa^{Aff1, Aff2}, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann-Josef, Koch-Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar^Aff1

المصدر: Journal of Molecular Medicine. 99(12):1755-1768

المؤلفون: Reijnders, Margot RF, Miller, Kerry A, Alvi, Mohsan, Goos, Jacqueline AC, Lees, Melissa M, de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert BA, Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia AL, Wieczorek, Dagmar, Study, The Deciphering Developmental Disorders, Baralle, Diana, Blair, Edward M, Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs WE, Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M, Cremer, Kirsten, Strom, Tim M, Bird, Lynne M, Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F, Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L, Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S, Edery, Patrick, Yap, Patrick, Terhal, Paulien A, van der Spek, Peter J, Lakeman, Phillis, Taylor, Rachel L, Littlejohn, Rebecca O, Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander PA, Kant, Sarina G, McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid MA, Douzgou, Sofia, Wall, Steven A, Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J, Twigg, Stephen RF, Mathijssen, Irene MJ, Nellaker, Christoffer, Brunner, Han G, Wilkie, Andrew OM

المصدر: American Journal of Human Genetics. 102(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Brain Disorders, Human Genome, Neurosciences, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Base Sequence, Cell Line, Child, Child, Preschool, Facies, Female, Genetic Association Studies, Humans, Infant, Inheritance Patterns, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Protein Kinases, RNA, Messenger, Translocation, Genetic, Young Adult, Deciphering Developmental Disorders Study, Tousled-like, facial averaging, haploinsufficiency, intellectual disability, kinase, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9sv477rx

المؤلفون: Wieczorek, Dagmar^Aff10, Lüdecke, Hermann-Josef^Aff10, Spranger, Jürgen, Section editor^Aff11

المساهمون: Hoffmann, Georg F., editor^Aff1, Lentze, Michael J., editor^{Aff2, Aff6}, Spranger, Jürgen, editor^{Aff3, Aff9}, Zepp, Fred, editor^Aff4, Berner, Reinhard, editor^Aff5, Schaub, Jürgen, Founding Editor^Aff7, Schulte, Franz-Josef, Founding Editor^Aff8

المصدر: Pädiatrie : Grundlagen und Praxis. :409-414

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المؤلفون: Kraus, Cornelia, Brueton, Louise, Cole, Trevor, Degenhardt, Franziska, Engels, Hartmut, Gillessen-Kaesbach, Gabriele, Graul-Neumann, Luitgard, Horn, Denise, Hoyer, Juliane, Just, Walter, Rauch, Anita, Reis, Andre, Wollnik, Bernd, Zeschnigk, Michael, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, http://data.europeana.eu/agent/base/86868, Zweier, Christiane

URL الوصول: https://www.europeana.eu/item/2048441/item_VRRZISJM3KWVXSRHJM3NDKDNEO3S23PM?utm_source=api&utm_medium=api&utm_campaign=YuvuWBeCa

المؤلفون: Averdunk, Luisa^{Aff1, Aff2}, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann‑Josef, Koch‑Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar^Aff1

المصدر: Journal of Molecular Medicine. 99(12):1769-1770

المؤلفون: Bramswig, Nuria C.^Aff1, Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I.^{Aff3, Aff4, Aff5}, Alhashem, Amal^{Aff3, Aff6}, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel^{Aff1, Aff10}, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja^{Aff13, Aff14}, Elbendary, Hasnaa M., Gorokhova, Svetlana^{Aff16, Aff17}, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre^{Aff19, Aff20}, Mignot, Cyril, Mohamed, Sarar^{Aff3, Aff21}, Nava, Caroline^{Aff8, Aff10}, Philip, Nicole^{Aff16, Aff17}, Ravix, Cecile, Rolfs, Arndt^{Aff2, Aff22}, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara^{Aff13, Aff14}, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent^{Aff16, Aff17}, Wieland, Thomas, Engels, Hartmut, Strom, Tim M.^{Aff24, Aff26}, Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef^{Aff1, Aff27}, Bauer, Peter, Wieczorek, Dagmar^{Aff1, Aff27}

المصدر: Human Genetics. 137(9):753-768

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